| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.853329_853343del | CA2695227788 | ELANE | c.292_306del (p.Val98_Gln102del) | |
| 19 | g.853342A= | CA2317360167 | ELANE | c.305A= (p.Gln102=) | |
| 19 | g.853342A>C | CA402916111 | ELANE | c.305A>C (p.Gln102Pro) | ClinVar dbSNP |
| 19 | g.853342A>G | CA303943298 | ELANE | c.305A>G (p.Gln102Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853342A>T | CA402916107 | ELANE | c.305A>T (p.Gln102Leu) | |
| 19 | g.853343G>A | CA504684973 | ELANE | c.306G>A (p.Gln102=) | |
| 19 | g.853343G>C | CA402916114 | ELANE | c.306G>C (p.Gln102His) | gnomAD v4 |
| 19 | g.853343G>T | CA402916117 | ELANE | c.306G>T (p.Gln102His) | gnomAD v4 |
| 19 | g.853344C>A | CA9025997 | ELANE | c.307C>A (p.Arg103Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853344C= | CA2317360168 | ELANE | c.307C= (p.Arg103=) | |
| 19 | g.853344C>G | CA402916118 | ELANE | c.307C>G (p.Arg103Gly) | |
| 19 | g.853344C>T | CA402916119 | ELANE | c.307C>T (p.Arg103Cys) | |
| 19 | g.853345G>A | CA9025998 | ELANE | c.308G>A (p.Arg103His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.853345G>C | CA402916128 | ELANE | c.308G>C (p.Arg103Pro) | ClinVar dbSNP |
| 19 | g.853345G= | CA2317360169 | ELANE | c.308G= (p.Arg103=) | |
| 19 | g.853345G>T | CA16620913 | ELANE | c.308G>T (p.Arg103Leu) | ClinVar dbSNP |
| 19 | g.853346C>A | CA504684976 | ELANE | c.309C>A (p.Arg103=) | |
| 19 | g.853346C>G | CA504684977 | ELANE | c.309C>G (p.Arg103=) | |
| 19 | g.853346C>T | CA504684975 | ELANE | c.309C>T (p.Arg103=) | |
| 19 | g.853347A>C | CA402916132 | ELANE | c.310A>C (p.Ile104Leu) | |
| 19 | g.853347A>G | CA402916134 | ELANE | c.310A>G (p.Ile104Val) | |
| 19 | g.853347A>T | CA402916136 | ELANE | c.310A>T (p.Ile104Phe) | |
| 19 | g.853348T>A | CA402916145 | ELANE | c.311T>A (p.Ile104Asn) | |
| 19 | g.853348T>C | CA402916143 | ELANE | c.311T>C (p.Ile104Thr) | |
| 19 | g.853348T>G | CA402916140 | ELANE | c.311T>G (p.Ile104Ser) | |
| 19 | g.853349C>A | CA504684980 | ELANE | c.312C>A (p.Ile104=) | |
| 19 | g.853349C>G | CA402916147 | ELANE | c.312C>G (p.Ile104Met) | gnomAD v4 |
| 19 | g.853349C>T | CA504684979 | ELANE | c.312C>T (p.Ile104=) | |
| 19 | g.853350T>A | CA402916149 | ELANE | c.313T>A (p.Phe105Ile) | |
| 19 | g.853350T>C | CA402916152 | ELANE | c.313T>C (p.Phe105Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.853350T>G | CA402916155 | ELANE | c.313T>G (p.Phe105Val) | |
| 19 | g.853350T= | CA2317360170 | ELANE | c.313T= (p.Phe105=) | |
| 19 | g.853351T>A | CA402916157 | ELANE | c.314T>A (p.Phe105Tyr) | |
| 19 | g.853351T>C | CA402916160 | ELANE | c.314T>C (p.Phe105Ser) | |
| 19 | g.853351T>G | CA402916161 | ELANE | c.314T>G (p.Phe105Cys) | |
| 19 | g.853352C>A | CA402916164 | ELANE | c.315C>A (p.Phe105Leu) | |
| 19 | g.853352C= | CA2317360171 | ELANE | c.315C= (p.Phe105=) | |
| 19 | g.853352C>G | CA402916166 | ELANE | c.315C>G (p.Phe105Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.853352C>T | CA504684981 | ELANE | c.315C>T (p.Phe105=) | ClinVar gnomAD v4 |
| 19 | g.853353G>A | CA402916170 | ELANE | c.316G>A (p.Glu106Lys) | gnomAD v4 |
| 19 | g.853353G>C | CA402916173 | ELANE | c.316G>C (p.Glu106Gln) | |
| 19 | g.853353G>T | CA402916175 | ELANE | c.316G>T (p.Glu106Ter) | |
| 19 | g.853354A>C | CA402916181 | ELANE | c.317A>C (p.Glu106Ala) | ClinVar |
| 19 | g.853354A>G | CA402916183 | ELANE | c.317A>G (p.Glu106Gly) | dbSNP |
| 19 | g.853354A>T | CA402916178 | ELANE | c.317A>T (p.Glu106Val) | |
| 19 | g.853355A>C | CA402916189 | ELANE | c.318A>C (p.Glu106Asp) | |
| 19 | g.853355A>G | CA504684982 | ELANE | c.318A>G (p.Glu106=) | gnomAD v4 |
| 19 | g.853355A>T | CA402916188 | ELANE | c.318A>T (p.Glu106Asp) | |
| 19 | g.853356A>C | CA402916194 | ELANE | c.319A>C (p.Asn107His) | |
| 19 | g.853356A>G | CA402916196 | ELANE | c.319A>G (p.Asn107Asp) | ClinVar |